Search results for "White"
showing 10 items of 1158 documents
Multiple sclerosis: prevalence of the ‘central vein’ sign in white matter lesions on gadolinium-enhanced susceptibility-weighted images
2021
Aims To evaluate prospectively whether an intravenous gadolinium injection could improve the detection of the central vein sign on susceptibility-weighted imaging sequences obtained with a 1.5 T magnetic resonance scanner in patients with multiple sclerosis compared to unenhanced susceptibility-weighted images. Materials and methods This prospective, institution review board-approved study included 19 patients affected by multiple sclerosis (six men; 13 women; mean age 40.8 years, range 20–74 years). Patients had the relapsing–remitting clinical subtype in 95% of cases, and only one (5%) patient had the primary progressive clinical subtype of multiple sclerosis. T2-weighted images, fluid-at…
Correlation between fatigue and brain atrophy and lesion load in multiple sclerosis patients independent of disability.
2007
Abstract Background Fatigue is a major problem in multiple sclerosis (MS), and its association with MRI features is debated. Objective To study the correlation between fatigue and lesion load, white matter (WM), and grey matter (GM), in MS patients independent of disability. Methods We studied 222 relapsing remitting MS patients with low disability (scores ≤ 2 at the Kurtzke Expanded Disability Status Scale). Lesion load, WM and GM were measured by fully automated, operator-independent, multi-parametric segmentation method. T1 and T2 lesion volume were also measured by a semi-automated method. Fatigue was assessed by the Fatigue Severity Scale (FSS), and patients divided in high-fatigue (FS…
Disturbed structural connectivity is related to inattention and impulsivity in adult attention deficit hyperactivity disorder
2010
Inattention and impulsivity are the most prominent clinical features of attention deficit hyperactivity disorder (ADHD) in adulthood. Structural and functional neuroimaging studies of subjects with ADHD have demonstrated abnormalities in several brain areas, including fronto-striatal and fronto-cerebellar networks. Mostly, these studies were based on volumetric measurements and have been conducted in children. We investigated white matter (WM) integrity and correlation with measures of attention and impulsivity in adult patients with ADHD adopting diffusion tensor imaging (DTI). N = 37 (21 males) never-medicated adult patients with ADHD combined subtype and N = 34 (16 males) healthy control…
A Novel Loss of Function Mutation of PCSK9 Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol
2007
Objectives— The PCSK9 gene, encoding a pro-protein convertase involved in posttranslational degradation of low-density lipoprotein receptor, has emerged as a key regulator of plasma low-density lipoprotein cholesterol. In African-Americans two nonsense mutations resulting in loss of function of PCSK9 are associated with a 30% to 40% reduction of plasma low-density lipoprotein cholesterol. The aim of this study was to assess whether loss of function mutations of PCSK9 were a cause of familial hypobetalipoproteinemia and a determinant of low-plasma low-density lipoprotein cholesterol in whites. Methods and Results— We sequenced PCSK9 gene in 18 familial hypobetalipoproteinemia subjects and i…
Acute extrahepatic infectious or inflammatory diseases are a cause of transient mosaic pattern on CT and MR imaging related to sinusoidal dilatation …
2015
To report the association of a mosaic enhancement pattern on contrast-enhanced CT or MR imaging and hepatic sinusoidal dilatation (SD) with acute inflammatory conditions affecting extrahepatic organs. From 2007 to 2012, patients with acute inflammatory diseases who underwent contrast-enhanced CT and/or MRI of the liver with a mosaic enhancement pattern were selected. Clinico-biological and other imaging features were collected at diagnosis and during follow-up. Sixteen patients were included (15 women, median age 27 years; range 18–68). Five women (33 %) were receiving oral contraceptives. Acute inflammatory diseases included pyelonephritis (n = 10), pancreatitis (n = 2), pneumonia (n = 1),…
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
2009
Context Echocardiographic measures of left ventricular (LV) structure and function are heritable phenotypes of cardiovascular disease. Objective To identify common genetic variants associated with cardiac structure and function by conducting a meta-analysis of genome-wide association data in 5 population-based cohort studies (stage 1) with replication (stage 2) in 2 other community-based samples. Design, Setting, and Participants Within each of 5 community-based cohorts comprising the EchoGen consortium (stage 1; n = 12 612 individuals of European ancestry; 55% women, aged 26-95 years; examinations between 1978-2008), we estimated the association between approximately 2.5 million single-nuc…
Enzyme Replacement Therapy Stabilized White Matter Lesion Progression in Fabry Disease
2014
<b><i>Background:</i></b> The central nervous system manifestations in Fabry disease (FD) include progressive white matter lesions (WMLs) and stroke. Due to progressive microvascular involvement, men and women with FD over 35 years of age develop WMLs. Moreover, the prevalence of stroke has been estimated to be 12 times higher in FD compared with the general population. Enzyme replacement therapy (ERT) is available and has shown beneficial effects on renal, cardiac, and peripheral nerve function in FD, but the ERT effect on the progression of WMLs, or the reduction in cerebrovascular events, remains unknown. <b><i>Methods:</i></b> The WML burd…
Prevalence of refractive errors in the European adult population: the Gutenberg Health Study (GHS).
2014
Objective To study the distribution of refractive errors among adults of European descent. Design Population-based eye study in Germany with15 010 participants aged 35–74 years. Methods The study participants underwent a detailed ophthalmic examination according to a standardised protocol. Refractive error was determined by an automatic refraction device (Humphrey HARK 599) without cycloplegia. Definitions for the analysis were myopia +0.5 D, astigmatism >0.5 cylinder D and anisometropia >1.0 D difference in the spherical equivalent between the eyes. Exclusion criterion was previous cataract or refractive surgery. Results 13 959 subjects were eligible. Refractive errors ranged from −21.5 to…
Evoked potential study in facio-scapulo-humeral muscular dystrophy.
1997
Nerve conduction velocities (NCVs), somatosensory (SEPs) and auditory evoked potentials (BAEPs) were recorded in 9 patients with facio-scapulo-humeral dystrophy (FSHD) and in 20 age-matched controls. In FSHD patients a significant increase of the nerve distal sensory latencies and of the absolute SEP latencies revealed a subclinical involvement of the afferent sensory pathways, as well as the abnormal slowing of the later components of the BAEPs, pointed to a central auditory dysfunction. Moreover all patients underwent brain MRI that showed the presence of white matter hyperintense lesions in 4 of them (44%). No correlations were found between individual or total number of SEP and BAEP abn…
The PTPN22gain-of-function+1858T(+) genotypes correlate with low IL-2 expression in thymomas and predispose to myasthenia gravis
2009
Protein tyrosine phosphatase, non-receptor type 22 (PTPN22) inhibits T-cell activation and interleukin-2 (IL-2) production. The PTPN22(gain-of-function)+1858T(+) genotypes predispose to multiple autoimmune diseases, including early-onset (non-thymomatous) myasthenia gravis (MG). The disease association and the requirement of IL-2/IL-2 receptor signaling for intrathymic, negative T-cell selection have suggested that these genotypes may weaken T-cell receptor (TCR) signaling and impair the deletion of autoreactive T cells. Evidence for this hypothesis is missing. Thymoma-associated MG, which depends on intratumorous generation and export of mature autoreactive CD4(+) T cells, is a model of au…